News

The common type 2 diabetes medication metformin eased the excessive production of proteins in nerve cells that were engineered in a lab to have the underlying defect seen in people with fragile X syndrome, a study reported. These findings support further development of metformin as a treatment for fragile…

Scientists found evidence of a decoupling between structural and functional changes that weaken synapses (the place where nerve cells communicate). The findings may help identify new therapeutic targets and develop alternative therapies for people with fragile X syndrome, researchers said. The study, “Dissociation of functional and…

July is National Fragile X Awareness Month, an annual event set aside to bring attention to the rare genetic condition. Across the country, the fragile X syndrome community is observing the month by spotlighting individuals, posting educational flyers, and placing awareness magnets on vehicles, among other efforts.

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Zynerba Pharmaceuticals‘ Zygel failed to significantly ease behavioral symptoms in the overall group of children with fragile X syndrome (FXS) who took part in the CONNECT-FX trial, top-line results show. However, significant benefits were detected in participants with more severe symptoms, indicating that the experimental…

A parent language intervention based on story-telling eases the severity of speech and social impairments in children with fragile X syndrome, a study shows. The study also found that adding lovastatin, a medication widely prescribed for lowering cholesterol, leads to no additional benefits. The study “Controlled…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

Low levels of pro-inflammatory proteins in the blood suggest that inflammation is not a hallmark of fragile X syndrome, according to a new study. The findings also indicated that assessing the levels of 16 proteins may be useful for diagnosing, classifying, and monitoring fragile X progression.

Oral treatment with trofinetide was well tolerated and, at a higher dose, eased social avoidance, anxiety, hyperactivity and other symptoms of fragile X syndrome in adolescent and adult males, results of a Phase 2 trial show. The study, “A Double-Blind, Randomized, Placebo-Controlled Clinical Study of…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.